Hydroxyglutaric aciduria and malignant brain tumor: a case report and literature review.
L -2-Hydroxyglutaric aciduria (L -2-OHGA) is a rare autosomal recessive inherited encephalopathy. This inborn error, characterized by psychomotor retardation, progressive ataxia and typical magnetic resonance imaging findings, presents in early infancy. To make a definitive diagnosis, an anomalous accumulation of L -2-hydroxyglutaric acid must be detected in body fluids. Here, we present a 17-year-old boy with L: -2-OHGA who developed an anaplastic ependymoma during the course of this disease. We also present a literature review including seven other patients who developed malignant brain tumors during the course of L -2-OHGA. This correlation may indicate a possible increased risk of brain tumors among patients with L -2-hydroxyglutaric aciduria.
Aghili
Mahdi
M
Department of Radiation Oncology, Imam Khomeini Hospital Complex, Tehran University of Medical Sciences, Keshavarz Boulevard, Tehran, Iran. aghili@sina.tums.ac.ir
Zahedi
Fatemeh
F
Rafiee
Elham
E
D000293:Adolescent; D020739:Brain Diseases, Metabolic, Inborn / Q000150:complications* / Q000652:urine; D004806:Ependymoma / Q000150:complications* / Q000652:urine; D005625:Frontal Lobe / Q000473:pathology*; D006801:Humans; D006880:Hydroxy Acids / Q000652:urine*; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male
D006880:Hydroxy Acids